Histopathological findings in livers of patients with urea cycle disorders
J Yaplito-Lee, CW Chow, A Boneh - Molecular genetics and metabolism, 2013 - Elsevier
BACKGROUND: Urea cycle disorders (UCD) are caused by genetic defects in enzymes that
constitute the hepatic ammonia detoxification pathway. Patients may present with variable
clinical manifestations and with hyperammonaemia. Liver abnormalities have been
associated with UCD, but only a few reports on the histopathological findings in the liver of
UCD patients have been published. METHODS: We conducted a retrospective review of
liver biopsies, ex-planted livers and livers at post-mortem of patients with UCD. A single …
constitute the hepatic ammonia detoxification pathway. Patients may present with variable
clinical manifestations and with hyperammonaemia. Liver abnormalities have been
associated with UCD, but only a few reports on the histopathological findings in the liver of
UCD patients have been published. METHODS: We conducted a retrospective review of
liver biopsies, ex-planted livers and livers at post-mortem of patients with UCD. A single …
